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Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience.
Vaisitti T, Sorbini M, Callegari M, Kalantari S, Bracciamà V, Arruga F, Vanzino SB, Rendine S, Togliatto G, Giachino D, Pelle A, Cocchi E, Benvenuta C, Baldovino S, Rollino C, Fenoglio R, Sciascia S, Tamagnone M, Vitale C, Calabrese G, Biancone L, Bussolino S, Savoldi S, Borzumati M, Cantaluppi V, Chiappero F, Ungari S, Peruzzi L, Roccatello D, Amoroso A, Deaglio S. Vaisitti T, et al. Among authors: ungari s. J Nephrol. 2021 Oct;34(5):1767-1781. doi: 10.1007/s40620-020-00898-8. Epub 2020 Nov 23. J Nephrol. 2021. PMID: 33226606 Free PMC article.
Sensitivity to asbestos is increased in patients with mesothelioma and pathogenic germline variants in BAP1 or other DNA repair genes.
Betti M, Aspesi A, Ferrante D, Sculco M, Righi L, Mirabelli D, Napoli F, Rondón-Lagos M, Casalone E, Vignolo Lutati F, Ogliara P, Bironzo P, Gironi CL, Savoia P, Maffè A, Ungari S, Grosso F, Libener R, Boldorini R, Valiante M, Pasini B, Matullo G, Scagliotti G, Magnani C, Dianzani I. Betti M, et al. Among authors: ungari s. Genes Chromosomes Cancer. 2018 Nov;57(11):573-583. doi: 10.1002/gcc.22670. Genes Chromosomes Cancer. 2018. PMID: 30338612
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.
Di Gregorio E, Riberi E, Belligni EF, Biamino E, Spielmann M, Ala U, Calcia A, Bagnasco I, Carli D, Gai G, Giordano M, Guala A, Keller R, Mandrile G, Arduino C, Maffè A, Naretto VG, Sirchia F, Sorasio L, Ungari S, Zonta A, Zacchetti G, Talarico F, Pappi P, Cavalieri S, Giorgio E, Mancini C, Ferrero M, Brussino A, Savin E, Gandione M, Pelle A, Giachino DF, De Marchi M, Restagno G, Provero P, Cirillo Silengo M, Grosso E, Buxbaum JD, Pasini B, De Rubeis S, Brusco A, Ferrero GB. Di Gregorio E, et al. Among authors: ungari s. Clin Genet. 2017 Oct;92(4):415-422. doi: 10.1111/cge.13009. Epub 2017 Jul 25. Clin Genet. 2017. PMID: 28295210
40 results